Genotype-phenotype relationship in retinopathy: a perspective from a pediatric age group.

Introduction: Monocentric retrospective case series to describe clinical and molecular peculiarities in a series of pediatric patients in attempting a possible genotype-phenotype correlation.

Methods: We included 13 pediatric patients from 7 unrelated families (ages 1-18) with biallelic pathogenic and likely pathogenic variants in RDH12 gene. For all our patients segregation analyses were performed in their parents and affected siblings.

Diabetic Retinopathy: Soluble and Imaging Ocular Biomarkers.

Diabetic retinopathy (DR), the most common microvascular complication of diabetes mellitus, represents the leading cause of acquired blindness in the working-age population. Due to the potential absence of symptoms in the early stages of the disease, the identification of clinical biomarkers can have a crucial role in the early diagnosis of DR as well as for the detection of prognostic factors. In particular, imaging techniques are fundamental tools for screening, diagnosis, classification, monitoring, treatment planning and prognostic assessment in DR.